Allele Registry

Canonical Allele Identifier: CA962914

Gene: DPYD HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr1:g.97082365T>C

GRCh37 chr1:g.97547921T>C

Revel Score:

ENST00000370192 (MANE Select) 0.835

Linked Data - Sequence & Population

gnomAD v2:

1:97547921 T / C

gnomAD v3:

1:97082365 T / C

gnomAD v4:

chr1-97082365-T-C

Joint Max Group AF 0.00002827 (NFE)

Genomes Max Group AF 0.00005844 (NFE)

Exomes Max Group AF 0.00002371 (NFE)

Linked Data - NCBI & NCI

ClinVar Allele:

541385

ClinVar RCV:

RCV000666781

ClinVar Variation:

551659

dbSNP:

141044036

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97082365T>C , CM000663.2:g.97082365T>C	GRCh38
NC_000001.10:g.97547921T>C , CM000663.1:g.97547921T>C	GRCh37
NC_000001.9:g.97320509T>C	NCBI36
NG_008807.2:g.843695A>G , LRG_722:g.843695A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370192.8:c.2872A>G MANE Select	ENSP00000359211.3:p.Lys958Glu
ENST00000370192.7:c.2872A>G	ENSP00000359211.3:p.Lys958Glu
NM_000110.3:c.2872A>G , LRG_722t1:c.2872A>G	NP_000101.2:p.Lys958Glu
XM_005270562.3:c.2656A>G	XP_005270619.2:p.Lys886Glu
XM_017000507.1:c.2761A>G	XP_016855996.1:p.Lys921Glu
XM_017000508.2:c.2377A>G	XP_016855997.1:p.Lys793Glu
XM_017000509.2:c.2377A>G	XP_016855998.1:p.Lys793Glu
XM_017000510.1:c.2377A>G	XP_016855999.1:p.Lys793Glu
NM_000110.4:c.2872A>G MANE Select	NP_000101.2:p.Lys958Glu

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